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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 24755273 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.